1-74738724-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138467.3(TYW3):c.290C>G(p.Thr97Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138467.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TYW3 | NM_138467.3 | c.290C>G | p.Thr97Ser | missense_variant | 3/6 | ENST00000370867.8 | |
TYW3 | XM_006710347.3 | c.290C>G | p.Thr97Ser | missense_variant | 3/7 | ||
TYW3 | NM_001162916.2 | c.255+2102C>G | intron_variant | ||||
TYW3 | NR_027962.2 | n.496C>G | non_coding_transcript_exon_variant | 3/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TYW3 | ENST00000370867.8 | c.290C>G | p.Thr97Ser | missense_variant | 3/6 | 1 | NM_138467.3 | P1 | |
TYW3 | ENST00000479111.5 | c.-71C>G | 5_prime_UTR_variant | 4/7 | 3 | ||||
TYW3 | ENST00000483990.1 | c.-71C>G | 5_prime_UTR_variant | 2/4 | 3 | ||||
TYW3 | ENST00000457880.6 | c.255+2102C>G | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 31, 2023 | The c.290C>G (p.T97S) alteration is located in exon 3 (coding exon 3) of the TYW3 gene. This alteration results from a C to G substitution at nucleotide position 290, causing the threonine (T) at amino acid position 97 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.